title: In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia.
abstract: BACKGROUND
  Preclinical and clinical evidence suggests that impaired gamma-aminobutyric (GABA) control, leading to disinhibition within the sensorimotor system, might play a role in dystonia. Aim of this study is the in vivo assessment of the GABAergic system in dystonia using positron emission tomography (PET) and (11) C-flumazenil, a selective GABA(A) receptor ligand.
  
  
  METHODS
  Fourteen subjects with primary dystonia (9 carriers of the DYT1 mutation and 5 sporadic cases) were compared to 11 controls, using a simplified reference tissue model to measure binding potential.
  
  
  RESULTS
  Voxel-based analyses showed a reduction in GABA(A) receptor expression/affinity both in DYT1 carriers and sporadic patients in primary motor and premotor cortex, primary and secondary somatosensory cortex, and in the motor component of the cingulate gyrus.
  
  
  CONCLUSIONS
  Dysfunction of GABA(A) receptors in sensorimotor systems in primary (genetic and sporadic) dystonia supports the view that lack of GABAergic control may be associated with the generation of dystonic movements.
authors.affiliation: Division of Neuroscience, Vita-Salute San Raffaele University, Milan, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Garibotto
authors.forename: Luigi M
authors.initials: LM
authors.lastname: Romito
authors.forename: Antonio E
authors.initials: AE
authors.lastname: Elia
authors.forename: Paola
authors.initials: P
authors.lastname: Soliveri
authors.forename: Andrea
authors.initials: A
authors.lastname: Panzacchi
authors.forename: Assunta
authors.initials: A
authors.lastname: Carpinelli
authors.forename: Michele
authors.initials: M
authors.lastname: Tinazzi
authors.forename: Alberto
authors.initials: A
authors.lastname: Albanese
authors.forename: Daniela
authors.initials: D
authors.lastname: Perani
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D001931:Brain Mapping; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000378:metabolism*; D020821:Dystonic Disorders / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005260:Female; D005442:Flumazenil / Q000493:pharmacokinetics; D018757:GABA Modulators / Q000493:pharmacokinetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics; D011877:Radionuclide Imaging; D011963:Receptors, GABA-A / Q000378:metabolism*; D017384:Sequence Deletion / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D018757:GABA Modulators; D018832:Molecular Chaperones; D011963:Receptors, GABA-A; C108175:TOR1A protein, human; D005442:Flumazenil